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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-6886548-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=6886548&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 6886548,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001366230.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1454-609T>C",
"hgvs_p": null,
"transcript": "NM_001366230.1",
"protein_id": "NP_001353159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": null,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383472.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366230.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1454-609T>C",
"hgvs_p": null,
"transcript": "ENST00000383472.9",
"protein_id": "ENSP00000372964.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": null,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366230.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383472.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1298-609T>C",
"hgvs_p": null,
"transcript": "ENST00000262227.7",
"protein_id": "ENSP00000262227.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": null,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262227.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.977-609T>C",
"hgvs_p": null,
"transcript": "ENST00000419673.6",
"protein_id": "ENSP00000392660.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419673.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.923-609T>C",
"hgvs_p": null,
"transcript": "ENST00000532996.5",
"protein_id": "ENSP00000435990.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": null,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532996.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1454-609T>C",
"hgvs_p": null,
"transcript": "NM_001366231.1",
"protein_id": "NP_001353160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": null,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366231.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1364-609T>C",
"hgvs_p": null,
"transcript": "ENST00000933700.1",
"protein_id": "ENSP00000603759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": null,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1298-609T>C",
"hgvs_p": null,
"transcript": "NM_001410873.1",
"protein_id": "NP_001397802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": null,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410873.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1213-3340T>C",
"hgvs_p": null,
"transcript": "ENST00000933701.1",
"protein_id": "ENSP00000603760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": null,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.977-609T>C",
"hgvs_p": null,
"transcript": "NM_001010000.3",
"protein_id": "NP_001010000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010000.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.977-609T>C",
"hgvs_p": null,
"transcript": "ENST00000314319.7",
"protein_id": "ENSP00000313506.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314319.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.962-609T>C",
"hgvs_p": null,
"transcript": "ENST00000531294.5",
"protein_id": "ENSP00000437262.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
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"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531294.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.365-609T>C",
"hgvs_p": null,
"transcript": "ENST00000579689.1",
"protein_id": "ENSP00000463143.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 608,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579689.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1430-609T>C",
"hgvs_p": null,
"transcript": "XM_005258146.3",
"protein_id": "XP_005258203.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258146.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1430-609T>C",
"hgvs_p": null,
"transcript": "XM_047437794.1",
"protein_id": "XP_047293750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437794.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1373-609T>C",
"hgvs_p": null,
"transcript": "XM_047437796.1",
"protein_id": "XP_047293752.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437796.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1298-609T>C",
"hgvs_p": null,
"transcript": "XM_047437795.1",
"protein_id": "XP_047293751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": null,
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"cds_length": 2034,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437795.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1298-609T>C",
"hgvs_p": null,
"transcript": "XM_047437797.1",
"protein_id": "XP_047293753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437797.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1298-609T>C",
"hgvs_p": null,
"transcript": "XM_047437798.1",
"protein_id": "XP_047293754.1",
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"biotype": "protein_coding",
"feature": "XM_047437798.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1298-609T>C",
"hgvs_p": null,
"transcript": "XM_047437799.1",
"protein_id": "XP_047293755.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "XM_047437799.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1298-609T>C",
"hgvs_p": null,
"transcript": "XM_047437800.1",
"protein_id": "XP_047293756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.1298-609T>C",
"hgvs_p": null,
"transcript": "XM_047437801.1",
"protein_id": "XP_047293757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437801.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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],
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"gnomad_genomes_af": 0.819438,
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"gnomad_genomes_ac": 124689,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.024,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001366230.1",
"gene_symbol": "ARHGAP28",
"hgnc_id": 25509,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1454-609T>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}